Prevalence and clinical phenotype of the triplicated α-globin genes and its ethnic and geographical distribution in Guizhou of China.

Background: α-thalassemia is relatively endemic in Guizhou province of southwestern China. To predict the clinical manifestations of α-globin gene aberration for genetic counseling, we examined the prevalence of the α-globin triplication and the genotype-phenotype correlation in this subpopulation METHODS: A cohort of 7644 subjects was selected from nine ethnicities covering four regions in Guizhou province of China. Peripheral blood was collected from each participant for routine blood testing and hemoglobin electrophoresis.

[Expression and Clinical Significance of CTGF in Patients with Multiple Myeloma].

Objective: To detect the relationship between CTGF in the bone marrow of MM patients and osteolytic lesion of myeloma, moreover, to investigate the clinical significance of CTGF in MM.

Methods: Fifity-four MM patients treated in our hospital from March 2019 to April 2020 were enrolled, and 28 healthy volunteers were selected as the control group. The plasma in bone marrow of the patients was collected, and the ELISA was used to detect the level of CTGF in bone marrow plasma and the relationship between its and clinical characteristics were statistically analyzed.

Knockdown of eukaryotic translation initiation factor 3 subunit B inhibits cell proliferation and migration and promotes apoptosis by downregulating WNT signaling pathway in acute myeloid leukemia.

The study aimed to investigate the effect of eukaryotic translation initiation factor 3 subunit B (EIF3B) on cell proliferation, migration, and apoptosis as well as the underlying mechanism in acute myeloid leukemia (AML). EIF3B expression was detected in AML-193, HL-60, OCI-AML2, and KG-1 cell lines and human primary bone marrow mononuclear cells (BMMC). EIF3B knockdown was realized by transfecting EIF3B ShRNA plasmids, and EIF3B knockdown and WNT2 overexpression were established by transfecting EIF3B ShRNA plasmids and WNT2 overexpression plasmids into KG-1 cells.

polysaccharides regulate the innate immunity of colorectal cancer cells by modulating the TLR4 signaling pathway.

Background: It has been well-recognized that the polysaccharides from (PAM) are immune system enhancers, which can facilitate the proliferation of lymphocytes and stimulate immune cells. Nevertheless, the antitumor effects of PAM and their molecular mechanisms remain unclear.

Aim: Our research aimed to evaluate the anti-cancer effects of PAM on colorectal cancer (CRC).

Severe Thalassemia Caused by Hb Zunyi [β147(HC3)Stop→Gln; : c.442T>C)] on the β-Globin Gene.

Hemoglobinopathies are caused by genetic defects on the globin genes. To date, more than 900 β-globin variants have been recorded worldwide. These gene alterations often cause either a decrease in β-globin synthesis or completely block synthesis, leading to a hemoglobinopathy.

[Expression and Clinical Significance of STAT3 Genes in Patients with Acute Myeloid Leukemia].

Objective: To investigate the expression of STAT3 gene in patients with acute myeloid leukemia and its correlation with clinical characteristics.

Methods: The real-time quantitative RT-PCR was used to detect the level of STAT3 mRNA in bone marrow samples from 38 newly diagnosed patients with acute myeloid leukemia(AML), and its relevance with clinical characteristics and prognosis were statistically analyzed. Western blot was employed to detect the STAT3 protein level in AML patients.

[Change of G6PD Activity in Children with Acute Leukemia and Its Clinical Significance].

Objective: To explore the change of G6PD activity in children with acute leukemia（AL）and its correlation with the clinical characteristics.

Methods: The G6PD activity in peripheral blood samples from 74 children disagnosed as AL (50 cases of ALL, and 24 cases of AML) was detected by Zinkham method recommended by WHO in 1967, and its relevance with clinical indicators was statistically analyzed. The peripheral blood samples of 70 healthy children were used as the controls.

[Expression of LNK Genes in Patients with Acute Leukemia and Its Clinical Significance].

Objective: To investigate the expression of LNK gene in patients with acute leukemia (AL) and its correlation with the clinical characteristics.

Methods: Real-time quantitative RT-PCR was used to detect the level of LNK mRNA in bone marrow samples from 80 patients diagnosed as AL(42 cases of ALL, and 38 cases of AML), and its relevance with clinical indicators was statistically analyzed. Western blot was used to detect the expression of LNK protein.

[Variation and Clinical Significance of LNK Gene in Essential Thrombocytosis].

Objective: To explore the mutation and single nucleotide polymorphism(SNP) of LNK gene in the patients with essential thrombocytosis (ET), and to analyze the relationship between LNK gene variation and the occurrence of ET.

Methods: JAK2V617F mutation was identified by allele-specific PCR. The whole exon of LNK gene was amplified by PCR.

β‑thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: A case report.

In the present study, a rare familial case of severe thalassemia with compound spontaneous mutations is reported. A 2.5‑year‑old boy, who suffered from severe anemia with yellowish skin, enlarged liver and spleen, was provided with a blood transfusion every 20 days to maintain hemoglobin levels between 90 and 100 g/l.

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.

Hemoglobinopathies are among the most common autosomal-recessive disorders worldwide. A comprehensive next-generation sequencing (NGS) test would greatly facilitate screening and diagnosis of these disorders. An NGS panel targeting the coding regions of hemoglobin genes and four modifier genes was designed.

mTOR up-regulation of PFKFB3 is essential for acute myeloid leukemia cell survival.

Although mTOR (mammalian target of rapamycin) activation is frequently observed in acute myeloid leukemia (AML) patients, the precise function and the downstream targets of mTOR are poorly understood. Here we revealed that PFKFB3, but not PFKFB1, PFKFB2 nor PFKFB4 was a novel downstream substrate of mTOR signaling pathway as PFKFB3 level was augmented after knocking down TSC2 in THP1 and OCI-AML3 cells. Importantly, PFKFB3 silencing suppressed glycolysis and cell proliferation of TSC2 silencing OCI-AML3 cells and activated apoptosis pathway.

[LNK Gene Single Nucleotide Polymorphisms and Acute Leukemia Susceptibility].

Unlabelled: To investigate the relationship between the LNK(SH2B3) gene single nucleotide polymorphism and risk of acute leukemia (AL) in Chinese population.

Methods: The bone marrow and peripheral blood samples from 31 cases of acute lymphoblastic leukemia, 70 cases of acute myeloid leukemia and 130 healthy persons as the controls were collected. Genotype of LNK SNP Rs3184504(c.

The Polymorphisms in LNK Gene Correlated to the Clinical Type of Myeloproliferative Neoplasms.

Objective: LNK is an adapter protein negatively regulating the JAK/STAT cell signaling pathway. In this study, we observed the correlation between variation in LNK gene and the clinical type of myeloproliferative neoplasms (MPN).

Methods: A total of 285 MPN cases were recruited, including essential thrombocythemia (ET) 154 cases, polycythemia vera (PV) 76 cases, primary myelofibrosis (PMF) 19 cases, and chronic myeloid leukemia (CML) 36 cases.

[Application of Next Generation Sequencing to Screen the Neonatal Thalassemia Genes].

Objective: To explore the feasibility of using next-generation sequencing technology (NGS) to screen the neonatal thalassemia genes.

Methods: Plantar blood of 206 cases of neonatal born in our hospital were randomly collected to be made into dried blood, which can be screened for thalassemia genes by next-generation sequencing, and then a further analysis would be performed on the basis on the detection results.

Results: In 206 cases of neonates tested, the thalassemia gene mutations in 22 cases were screened, including 11 cases of alpha-thalassemia, 11 cases of beta-thalassemia, 5 cases of new mutations.

[MCPIP1 mediates MCP-1-induced vascular smooth muscle cell proliferation].

The aim of the present study is to investigate whether monocyte chemotactic protein-1 (MCP-1)-induced vascular smooth muscle cell (VSMC) proliferation is mediated via monocyte chemotactic protein-1 induced protein-1 (MCPIP1). MCPIP1 expressions in cultured VSMC were detected by real-time PCR and Western blot following MCP-1 incubation. After MCPIP1 was silenced by siRNA, cell number was counted by hemocytometer, VSMC activity was analyzed by CCK-8 kit, percentage of DNA synthesis was detected by EdU kit, percentage of S phase cell numbers were measured by flow cytometry, and c-fos mRNA expression induced by MCP-1 or platelet-derived growth factor (PDGF) was detected by real-time PCR.

[Expression and significance of MMP-26, TIMP-4 and MMP-9 in diffuse large B-cell lymphoma cells].

The aim of this study was to investigate the expression of matrix metalloproteinase 26 (MMP-26), tissue inhibitor of metalloproteinase-4 (TIMP-4) and matrix metalloproteinase 9 (MMP-9) in patients with diffuse large B cell lymphoma (DLBCL) and their correlations with pathogenesis and development of DLBCL. A total of 95 specimens excised from DLBCL patients were prepared. Expression of MMP-26, TIMP-4 and MMP-9 were tested by SABC immunohistochemistry method and its correlation to clinicopathology indexes were analyzed.